Coinheritance of PIEZO1 variants and multi-locus red blood cell defects account for the symptomatic phenotype in beta-thalassemia carriers.
Journal
American journal of hematology
ISSN: 1096-8652
Titre abrégé: Am J Hematol
Pays: United States
ID NLM: 7610369
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
revised:
27
02
2023
received:
12
12
2022
accepted:
02
03
2023
medline:
15
5
2023
pubmed:
8
3
2023
entrez:
7
3
2023
Statut:
ppublish
Résumé
Workflow of the study with some examples of the achieved results.
Substances chimiques
PIEZO1 protein, human
0
Ion Channels
0
Types de publication
Letter
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
E130-E133Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Forni GL, Gianesin B, Musallam KM, et al. Overall and complication-free survival in a large cohort of patients with β-thalassemia major followed over 50 years. Am J Hematol. 2023;98(3):381-387. doi:10.1002/ajh.2679.
Taher AT, Musallam KM, Cappellini MD. beta-Thalassemias. N Engl J Med. 2021;384(8):727-743.
Andolfo I, Martone S, Rosato BE, et al. Complex modes of inheritance in hereditary red blood cell disorders: a case series study of 155 patients. Genes (Basel). 2021;12(7):958.
Andolfo I, Russo R, Rosato BE, et al. Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients. Am J Hematol. 2018;93:1509-1517.
Fermo E, Vercellati C, Marcello AP, et al. Hereditary xerocytosis due to mutations in PIEZO1 gene associated with heterozygous pyruvate kinase deficiency and beta-thalassemia trait in two unrelated families. Case Rep Hematol. 2017;2017:2769570.
Maciak K, Adamowicz-Salach A, Siwicka A, et al. Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel beta-globin mutation. Blood Cells Mol Dis. 2020;80:102378.
Picard V, Guitton C, Thuret I, et al. Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients. Haematologica. 2019;104:1554-1564.